Disease: CK syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894901
rs104894901 		0.925 0.320 X 152865888 missense variant G/A snv
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs104894903
rs104894903 		0.925 0.320 X 152850418 stop gained C/T snv
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs104894909
rs104894909 		0.925 0.320 X 152858816 missense variant C/T snv
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121909833
rs121909833 		1.000 0.240 X 152867577 inframe deletion GAA/- delins
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121909834
rs121909834 		1.000 0.240 X 152869089 frameshift variant -/T delins
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137853862
rs137853862 		1.000 0.240 X 152858872 missense variant G/A snv
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137853863
rs137853863 		1.000 0.240 X 152869040 missense variant A/C;G snv
CUI: C3151781
Disease: CK syndrome
CK syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0